Pyridoxine-dependent epilepsy

What causes pyridoxine-dependent epilepsy?

Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

The ALDH7A1 gene provides instructions for making an enzyme called α-aminoadipic semialdehyde (α-AASA) dehydrogenase, also known as antiquitin. This enzyme is involved in the breakdown of the protein building block (amino acid) lysine in the brain.

When antiquitin is deficient, a molecule that interferes with vitamin B6 function builds up in various tissues. Pyridoxine plays a role in many processes in the body, such as the breakdown of amino acids and the productions of chemicals that transmit signals in the brain (neurotransmitters). It is unclear how a lack of pyridoxine causes the seizures that are characteristic of this condition.

Some individuals with pyridoxine-dependent epilepsy do not have identified mutations in the ALDH7A1 gene. In these cases, the cause of the condition is unknown.

Last updated on 05-01-20

Is it common for adults with pyridoxine-dependent epilepsy to develop psychogenic nonepileptic seizures?

After an extensive search of the resources available to us, we have not been able to identify any reports which discuss individuals with pyridoxine- dependent epilepsy who have developed psychogenic nonepileptic seizures in adulthood.

You may wish to contact the following organizations which deal specifically with epilepsy to see if they are aware of any such cases. These groups may also be able to recommend a specialist who can assist your daughter in control of her symptoms.

Epilepsy Foundation
8301 Professional Place
East Landover, MD 20785-2238
Toll-free: 800-EFA-1000 (800-332-1000)
Phone: 301-459-3700
Fax: 301-577-4941
Email: webmaster@efa.org
Web: www.efa.org

American Epilepsy Society
342 North Main Street
West Hartford CT 06117-2507
Phone: 860-586-7505
Fax: 860-586-7550
Email: info@aesnet.org
Web: www.aesnet.org

Last updated on 05-01-20

What are dissociative seizures?

Dissociative or psychogenic nonepileptic seizures (PNES) are involuntary episodes of movement, sensation, or behaviors (vocalizations, crying, and other expressions of emotion) that do not result from abnormal brain discharges. The seizures can look like any kind of epileptic seizure. They are somatic manifestations (physical symptoms) of psychologic distress. Psychiatric conditions associated with PNES include depression, anxiety, somatoform disorder, posttraumatic stress disorder, dissociative disorder, and personality disorders. Treatment depends on the cause of the psychologic distress, and may involve cognitive behavioral therapy or psychotherapy, as well as antidepressive medication.

Last updated on 05-01-20

What is pyridoxine-dependent epilepsy?

Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This gene is inherited in an autosomal recessive fashion.

Last updated on 05-01-20

How might pyridoxine-dependent epilepsy be treated?

Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Recent studies have focused on using a lysine-restricted diet in addition to pyridoxine. Preliminary results suggest that this treatment has the potential to help control seizures and improve developmental outcomes in children with pyridoxine-dependent epilepsy.

Last updated on 05-01-20

Name: Epilepsy Foundation 8301 Professional Place East Suite 230
Landover, MD, 20785, United States
Phone: +1-301-459-3700 Toll Free: 800-332-1000 (24/7 Helpline) Fax : +1-301-577-2684 Email: contactus@efa.org Url: https://www.epilepsy.com/ en Español 1-866-748-8008

Connect with other users with Pyridoxine-dependent epilepsy on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App